Screenreader Navigation - [Skip to Content  | Skip to Main Navigation ]
Florida State University

Featured Stories

A Florida State University researcher hopes to help eliminate the trigger that causes one of the most inheritable forms of muscular dystrophy — fascioscapulohumeral muscular dystrophy (FSHD) — and perhaps even wipe out that disease entirely.

Assistant Professor of Biological Science Brian Chadwick is focusing his research on understanding the biology of certain types of repetitive DNA sequences in the human genome, about the function of which scientists know surprisingly little. Chadwick hopes to find out how changes to their size and organization can result in susceptibility to FSHD.

Chadwick was recently awarded a $393,000 grant from the National Institute of Neurological Disorders and Stroke to pursue his research. The two-year grant will allow Chadwick and fellow researchers to continue a level of study that may bring them close to a cure.

"In our case, if we are able to achieve what we propose, there will be a very real possibility of moving this research toward a therapeutic angle," he said.

Almost all forms of FSHD are associated with characteristic changes to the size of a repetitive fragment of DNA, located at the end of the long arm of the human fourth chromosome.

"The purpose of this award is to begin to develop molecular tools that could be used to correct the defect in patients," Chadwick said. "These could be thought of as custom-built molecular surgical instruments that, when introduced into the cell, will navigate to and cut the region of chromosome 4 that we are interested in. We plan to use these cutting-edge genome engineering tools to explore the possibility of editing the pathogenic form of chromosome 4 seen in FSHD."

The ultimate goal, he said, would be to actually "engineer" a patient's own cells in order to reintroduce muscle progenitor cells to counter the disorder's destructive muscle atrophy.

The best possible outcome?

"Restoring a patient's muscle function," said Chadwick, who added that recent advances in stem cell biology and genome engineering make this an exciting era in modern medicine.

"Today there is a very real possibility of treating diseases and restoring a normal life for individuals that would otherwise have poor prognoses," he said.

FSHD is the third most common inherited form of muscular dystrophy after Duchenne and myotonic dystrophy. The disorder affects approximately one in 15,000 people and is primarily characterized by weakness and progressive wasting away of muscle of the face, shoulders and upper arms, although it can spread and also affect certain muscles in the abdomen and legs.

Symptoms of FSHD typically begin to appear when a person is in his or her 20s or 30s. Currently there is no effective treatment for the degenerative disease, which leaves some patients wheelchair-bound.

"FSHD is a devastating degenerative muscle-wasting disease for which there is currently no effective treatment," Chadwick said. "The ultimate long-term goal and success of this project will mean that we can soon move these resources toward a clinical setting."

To learn more about Brian Chadwick's research, visit or contact him at (850) 645-9279 or

By Elizabeth Bettendorf
12 October 2012

[Close Button]

Florida State News and Events
For more news, visit Florida State 24/7